C20W (p.Cys20Trp) variant of F11 (Coagulation factor XI)
C20W (p.Cys20Trp) in F11 (Coagulation factor XI) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
C20W (p.Cys20Trp) variant details
- p.Cys20Trp
- TOPMed rs1739959023
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.92
- MetaSVM 0.96
- CADD 20.40
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available